9723[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 254280	Single allele	CACNA2D1, CACNA2D1-AS1 +79 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 545351	NC_000007.14:g.(?_81478831)_(84097791_?)del	CACNA2D1, CACNA2D1-AS1 +25 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 254281	Single allele	CACNA2D1, CACNA2D1-AS1 +25 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 155703	GRCh38/hg38 7q21.11(chr7:83340444-83395480)x1	SEMA3E	Copy number loss	See cases	GUncertain significance
Select item 1242507	NM_012431.3(SEMA3E):c.*256T>C	SEMA3E	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1198930	NM_012431.3(SEMA3E):c.*227T>C	SEMA3E	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1233803	NM_012431.3(SEMA3E):c.*196T>A	SEMA3E	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1291034	NM_012431.3(SEMA3E):c.*71T>A	SEMA3E	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1236886	NM_012431.3(SEMA3E):c.*61AAAT[3]	SEMA3E	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1174248	NM_012431.3(SEMA3E):c.*46A>C	SEMA3E	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 459534	NC_000007.14:g.(?_83367566)_(83648562_?)del	LOC129998730, SEMA3E	Deletion	CHARGE syndrome	GUncertain significance
Select item 529136	NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr)	SEMA3E (D774Y +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 696607	NM_012431.3(SEMA3E):c.2316G>A (p.Thr772=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2714884	NM_012431.3(SEMA3E):c.2315C>T (p.Thr772Met)	SEMA3E (T712M +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 738651	NM_012431.3(SEMA3E):c.2307C>T (p.Pro769=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1059922	NM_012431.3(SEMA3E):c.2303dup (p.Pro769fs)	SEMA3E (P709fs +1 more)	Duplication (frameshift variant)	CHARGE syndrome	GUncertain significance
Select item 1111717	NM_012431.3(SEMA3E):c.2302C>T (p.Leu768=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2713563	NM_012431.3(SEMA3E):c.2300G>T (p.Arg767Leu)	SEMA3E (R767L +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 695746	NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GBenign/Likely benign
Select item 2713659	NM_012431.3(SEMA3E):c.2282C>G (p.Ser761Cys)	SEMA3E (S761C +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3345762	NM_012431.3(SEMA3E):c.2281T>G (p.Ser761Ala)	SEMA3E (S701A +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 1061205	NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His)	SEMA3E (R700H +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 3352419	NM_012431.3(SEMA3E):c.2259C>T (p.Asn753=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3349791	NM_012431.3(SEMA3E):c.2253T>G (p.Tyr751Ter)	SEMA3E (Y691* +1 more)	Single nucleotide variant (nonsense)	SEMA3E-related disorder	GUncertain significance
Select item 2795522	NM_012431.3(SEMA3E):c.2253T>C (p.Tyr751=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1967543	NM_012431.3(SEMA3E):c.2239T>A (p.Ser747Thr)	SEMA3E (S747T +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1513385	NM_012431.3(SEMA3E):c.2234C>T (p.Ser745Leu)	SEMA3E (S685L +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2878641	NM_012431.3(SEMA3E):c.2224C>A (p.Leu742Ile)	SEMA3E (L742I +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3044633	NM_012431.3(SEMA3E):c.2223G>A (p.Lys741=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 374661	NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1387125	NM_012431.3(SEMA3E):c.2216G>A (p.Arg739Lys)	SEMA3E (R679K +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1969993	NM_012431.3(SEMA3E):c.2212_2215del (p.Lys738fs)	SEMA3E (K738fs +1 more)	Deletion (frameshift variant)	CHARGE syndrome	GUncertain significance
Select item 416920	NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GBenign
Select item 857679	NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu)	SEMA3E (D676E +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2421908	NM_012431.3(SEMA3E):c.2201G>C (p.Cys734Ser)	SEMA3E (C674S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3022108	NM_012431.3(SEMA3E):c.2199G>T (p.Trp733Cys)	SEMA3E (W673C +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1498300	NM_012431.3(SEMA3E):c.2193A>G (p.Lys731=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 3351471	NM_012431.3(SEMA3E):c.2188G>A (p.Glu730Lys)	SEMA3E (E670K +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 567794	NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter)	SEMA3E (E730* +1 more)	Single nucleotide variant (nonsense)	CHARGE syndrome	GUncertain significance
Select item 2782411	NM_012431.3(SEMA3E):c.2187C>T (p.Cys729=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3356812	NM_012431.3(SEMA3E):c.2163C>T (p.Asn721=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 1433236	NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr)	SEMA3E (S720T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 252677	NM_012431.3(SEMA3E):c.2155T>G (p.Tyr719Asp)	SEMA3E (Y719D +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 3356181	NM_012431.3(SEMA3E):c.2154T>G (p.Gly718=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 459538	NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser)	SEMA3E (G718S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1614238	NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=)	SEMA3E	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GLikely benign
Select item 459537	NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val)	SEMA3E (I717V +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GBenign
Select item 3354207	NM_012431.3(SEMA3E):c.2148G>A (p.Leu716=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 915375	NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys)	SEMA3E (Q655K +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 645948	NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn)	SEMA3E (K651N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2632001	NM_012431.3(SEMA3E):c.2122C>A (p.Pro708Thr)	SEMA3E (P648T +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 2077215	NM_012431.3(SEMA3E):c.2109G>A (p.Ser703=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 705063	NM_012431.3(SEMA3E):c.2109G>T (p.Ser703=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2505	NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu)	SEMA3E (S703L +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 1691498	NM_012431.3(SEMA3E):c.2106C>G (p.Ile702Met)	SEMA3E (I642M +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3061085	NM_012431.3(SEMA3E):c.2103C>A (p.Ser701Arg)	SEMA3E (S641R +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 218701	NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile)	SEMA3E (S701I +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +3 more	GBenign/Likely benign
Select item 753476	NM_012431.3(SEMA3E):c.2097G>A (p.Gln699=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145629	NM_012431.3(SEMA3E):c.2079G>A (p.Arg693=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2765873	NM_012431.3(SEMA3E):c.2075A>G (p.His692Arg)	SEMA3E (H632R +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3358331	NM_012431.3(SEMA3E):c.2070G>C (p.Arg690Ser)	SEMA3E (R630S +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 1139630	NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3354460	NM_012431.3(SEMA3E):c.2065G>A (p.Asp689Asn)	SEMA3E (D629N +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3317292	NM_012431.3(SEMA3E):c.2057A>G (p.Asp686Gly)	SEMA3E (D626G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1004184	NM_012431.3(SEMA3E):c.2057A>T (p.Asp686Val)	SEMA3E (D626V +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2636604	NM_012431.3(SEMA3E):c.2056G>A (p.Asp686Asn)	SEMA3E (D626N +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 2139692	NM_012431.3(SEMA3E):c.2055C>T (p.Asp685=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1393173	NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly)	SEMA3E (D685G +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 955728	NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)	SEMA3E (D625N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 459536	NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser)	SEMA3E (N683S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2157045	NM_012431.3(SEMA3E):c.2035G>A (p.Glu679Lys)	SEMA3E (E619K +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3027025	NM_012431.3(SEMA3E):c.2034C>G (p.Val678=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1256196	NM_012431.3(SEMA3E):c.2034C>T (p.Val678=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome +2 more	GLikely benign
Select item 1047815	NM_012431.3(SEMA3E):c.2027A>G (p.Glu676Gly)	SEMA3E (E616G +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2994997	NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3353995	NM_012431.3(SEMA3E):c.2012A>G (p.Glu671Gly)	SEMA3E (E611G +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 2148977	NM_012431.3(SEMA3E):c.2008T>C (p.Leu670=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1913589	NM_012431.3(SEMA3E):c.2006C>T (p.Thr669Ile)	SEMA3E (T609I +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2156122	NM_012431.3(SEMA3E):c.2004C>T (p.Ile668=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1370877	NM_012431.3(SEMA3E):c.1997G>A (p.Arg666His)	SEMA3E (R606H +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3355441	NM_012431.3(SEMA3E):c.1996C>A (p.Arg666Ser)	SEMA3E (R606S +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 2834872	NM_012431.3(SEMA3E):c.1992G>T (p.Thr664=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1442240	NM_012431.3(SEMA3E):c.1992G>A (p.Thr664=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 810119	NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met)	SEMA3E (T604M +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GUncertain significance
Select item 2307950	NM_012431.3(SEMA3E):c.1988A>G (p.His663Arg)	SEMA3E (H663R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350569	NM_012431.3(SEMA3E):c.1980C>A (p.Ser660Arg)	SEMA3E (S600R +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 1079304	NM_012431.3(SEMA3E):c.1977T>C (p.His659=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2766085	NM_012431.3(SEMA3E):c.1970T>C (p.Val657Ala)	SEMA3E (V657A +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1315992	NM_012431.3(SEMA3E):c.1969G>A (p.Val657Ile)	SEMA3E (V597I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2715614	NM_012431.3(SEMA3E):c.1967C>T (p.Thr656Ile)	SEMA3E (T656I +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 751358	NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1318741	NM_012431.3(SEMA3E):c.1955A>G (p.Tyr652Cys)	SEMA3E (Y592C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896253	NM_012431.3(SEMA3E):c.1953C>T (p.Thr651=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1155573	NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1412136	NM_012431.3(SEMA3E):c.1939T>G (p.Ser647Ala)	SEMA3E (S587A +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3346549	NM_012431.3(SEMA3E):c.1933C>A (p.His645Asn)	SEMA3E (H585N +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 2056822	NM_012431.3(SEMA3E):c.1932A>G (p.Leu644=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2848607	NM_012431.3(SEMA3E):c.1929G>C (p.Arg643Ser)	SEMA3E (R583S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance

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